Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events.

Autor: Heimer, Gali1,2,3 (AUTHOR), Pode‐Shakked, Ben2,3,4 (AUTHOR), Marek‐Yagel, Dina2,5 (AUTHOR), Vernitsky, Helly6 (AUTHOR), Tzadok, Michal1,2 (AUTHOR), Barel, Ortal7 (AUTHOR), Eyal, Eran7 (AUTHOR), Ben‐Zeev, Bruria1,2 (AUTHOR), Atzmon, Gil8,9,10 (AUTHOR), Anikster, Yair2,5 (AUTHOR) yair.anikster@sheba.health.gov.il
Zdroj: Clinical Genetics. Oct2024, p1. 9p. 4 Illustrations.
Databáze: Academic Search Ultimate
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